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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1998-1-14
|
| pubmed:abstractText |
We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0003-3995
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
40
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
158-63
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9401105-Child, Preschool,
pubmed-meshheading:9401105-Chromosome Deletion,
pubmed-meshheading:9401105-Chromosomes, Human, Pair 18,
pubmed-meshheading:9401105-DNA, Satellite,
pubmed-meshheading:9401105-Female,
pubmed-meshheading:9401105-Humans,
pubmed-meshheading:9401105-In Situ Hybridization, Fluorescence,
pubmed-meshheading:9401105-Monosomy,
pubmed-meshheading:9401105-Translocation, Genetic
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
18p monosomy with midline defects and a de novo satellite identified by FISH.
|
| pubmed:affiliation |
Laboratoire de Génétique, CHU Pellegrin, Bordeaux, France.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|